An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation

Представлен случай сочетанной хромосомной патологии - частичной трисомии по субтеломерному участку длинного плеча хромосомы 5 и по протяжённому участку хромосомы 9 у новорождённого ребёнка с множественными врождёнными пороками развития и кариотипом 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. Причиной хромосомного дисбаланса явилось редкое нарушение формирования гамет в мейозе II отца, являющегося носителем аутосомной реципрокной транслокации t(5;9)(q35;q31). Здоровые носители идентичной транслокации t(5;9)(q35;q31) были выявлены в трёх поколениях этой семьи. В статье описаны клинические проявления у пациента, обсуждаются возможные пути формирования такой хромосомной перестройки, а также проводится сравнительная характеристика фенотипических признаков на основе данных литературы. We report on a case of combined chromosomal pathology - partial trisomy on the terminal part of the long arm of chromosome 5 and partial trisomy on chromosome 9 in a newborn with multiple congenital malformations and karyotype 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. The cause of the chromosomal pathology was a rare abnormality of the formation of gametes in the father’s meiosis II. He is the carrier of the autosomal reciprocal translocation t(5;9)(q35;q31). Healthy carriers of the identical t(5;9)(q35;q31) translocation were identified in three generations of this family. The clinical manifestations of the patient, the possible ways of forming the rearrangement of chromosomes, and the comparison of phenotypes based on the literature data are discussed.

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Report of a case with partial trisomy 9 mosaicism

Ministry of Science and Technology, Vietnam ◽

10.31276/vjst.63(7).07-10 ◽

2021 ◽

Vol 63 (7) ◽

pp. 7-10

Author(s):

Thi Hai Hoang ◽

◽

Thi Ngoc Lan Hoang ◽

Thi Ha Vu ◽

Thi Sim Nguyen ◽

...

Keyword(s):

Genetic Counseling ◽

Clinical Manifestations ◽

Partial Trisomy ◽

Chromosome 9 ◽

Comparative Genomic ◽

Chromosomal Disorders ◽

Left Hand ◽

Trisomy 9 ◽

Motor Problems ◽

Data Source

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

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Trisomía parcial 9p derivada de una translocación recíproca 9;15, materna. Reporte de casos

Revista Facultad de Ciencias de la Salud UDES ◽

10.20320/rfcsudes.v2i2.66 ◽

2015 ◽

Vol 2 (2) ◽

pp. 139

Author(s):

Elodia Torres ◽

Stella Rodríguez ◽

Norma Monjagata ◽

Silvia Fernández ◽

María Beatriz NP De Herrreros ◽

...

Keyword(s):

Congenital Malformations ◽

Chromosomal Rearrangement ◽

Chromosomal Abnormalities ◽

Clinical Manifestations ◽

Unknown Origin ◽

Lymphocyte Culture ◽

Homologous Chromosomes ◽

Neurodevelopmental Delay ◽

Resolution Banding ◽

Trisomy 9P

Objectives: to highlight the importance of performing karyotype in children with congenital malformations in order to have a confirmatory diagnosis, in parents to exclude the possibility of being carriers of chromosomal abnormalities and perform the genetic counseling. Clinical cases description: Female patient with 3 years and 2 months old to whom karyotype was performed by global neurodevelopmental delay and microcephaly, and her mother with 34 years old without any clinical manifestations, to both patients, lymphocyte culture and chromosomal analysis with a High Resolution Banding techniques GTG and C were performed. The mother’s karyotype was 46,XX,t(9;15)(q10;q10)(p10;p10),add14p. The father’s karyotype was normal, 46,XY, and the girl’s karyotype resulted in a pure Trisomy 9p: 47,XX,+del(9)(q11). Discussion: This chromosomal rearrangement in mother included a nonhomologous reciprocal translocation between the long arms of pair chromosomes 9 and 15 and between the short arms of the same chromosomes, additional to it, an unknown origin material was also observed in short arm from one chromosome of the 14 pair. In meiosis of this type of rearrangement, the father’s normal homologous chromosomes are paired with the mother’s translocated chromosomes and as a result of 3:1 segregation a gamete with one chromosome else was originated that after fertilization resulted in an unbalanced translocation confirming the pure trisomy in the patient.

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CROSSING OVER AND DIPLOID EGG FORMATION IN THE ELONGATE MUTANT OF MAIZE

Genetics ◽

10.1093/genetics/79.3.435 ◽

1975 ◽

Vol 79 (3) ◽

pp. 435-450

Author(s):

P M Nel

Keyword(s):

Chromosome 9 ◽

Meiotic Spindle ◽

Crossing Over ◽

Chromosome 5 ◽

Basic Difference ◽

Egg Formation ◽

Preferential Segregation ◽

Centric Region ◽

Female Values ◽

Female Flowers

ABSTRACT Rhoades (1941) found recombination in the proximal regions of chromosome 5 to be higher in male than in female flowers. Two explanations were proposed to account for the lower female values, namely: (1) there is a basic difference in rates of crossing over in mega- and microsporocytes, or (2) selective orientation of the chromosome 5 bivalent on the meiotic spindle leads to the preferential segregation of noncrossover chromatids to the basal megaspore. These alternatives have been tested by carrying out a half-tetrad analysis of the diploid eggs produced by plants homozygous for the recessive elongate (el) allele. The A2—Bt crossover values determined from the diploid eggs of elongate plants were much lower than those calculated from haploid sperm of both El el and el el plants. Since male and female flowers should have similar cross-over values if the orientation hypothesis were correct, it was concluded that the amount of crossing over in the A2-Bt region of chromosome 5 is intrinsically higher in male than in female meiocytes. In the analysis of diploid eggs the use of the Bt locus, which marks the centric region of chromosome 5, provided information on the origin of diploid eggs. The genotypic constitution of 425 diploid eggs was ascertained. Of these, 20.4% were Bt bt. They could not be accounted for by failure of the second meiotic division or by replication during the interphase between the two meiotic divisions, but are expected if there is a single division with an equational separation of the centromere regions of chromosome 5. The Bt Bt and bt bt genotypes arise from a disjunctional separation. It is proposed that diploid eggs are produced by an abnormal meiosis in which there is one division with either disjunctional or equational separation. Disjunctional separation is more frequent but the ratio of the two types varies from ear to ear. Recombination in the A2-Bt-Pr region of chromosome 5 was found to be higher in the haploid gametes of elongate homozygotes than in El El and El el plants. On the other hand, crossing over was reduced in the Sh-Bz segment of chromosome 9 in elongate plants, but the adjacent Bz—Wx interval was unaffected.

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Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features [see comments]

Blood ◽

10.1182/blood.v87.1.299.bloodjournal871299 ◽

1996 ◽

Vol 87 (1) ◽

pp. 299-307 ◽

Cited By ~ 11

Author(s):

J Dierlamm ◽

S Pittaluga ◽

I Wlodarska ◽

M Stul ◽

J Thomas ◽

...

Keyword(s):

B Cell ◽

Structural Changes ◽

Marginal Zone ◽

Chromosomal Abnormalities ◽

Molecular Genetic ◽

Clinical Manifestations ◽

B Cell Lymphoma ◽

Partial Trisomy ◽

Chromosome 1 ◽

Chromosomal Changes

Clinical, histologic, cytogenetic, and molecular genetic data of 31 patients with extranodal, nodal, and splenic marginal zone B-cell lymphoma (MZBCL) are presented. Despite these variable clinical manifestations, a similar spectrum of morphologic features as well as distinctive immunophenotypic findings were noted. In all cases, a monotypic B-cell proliferation consistently negative for CD5, CD10, and CD23 was found expanding the marginal zone of the B follicle with and without colonization of the follicle centers. Clonal chromosomal abnormalities were detected in 23 of the 31 patients. Recurrent aberrations included whole or partial trisomy 3 (18 cases), trisomy 18 (9 cases), and structural rearrangements of chromosome 1 with breakpoints in 1q21 (9 cases) or 1p34 (6 cases), all of which were seen in extranodal, nodal, as well as splenic MZBCL. Abnormalities of the additional chromosome 3, such as +del(3)(p13),+i(3)(q10), or structural changes involving the distal part of the long arm, were evident in 9 of the 18 cases. All recurrent abnormalities were found in MZBCL more frequently than in other histologic entities of B-cell non-Hodgkin's lymphoma (B-NHL). None of the known lymphoma-associated chromosomal changes or rearrangements of the BCL1, BCL2, BCL3, BCL6, and CMYC genes were detected. We conclude that MZBCL represent a distinct entity of B- NHL with characteristic morphologic and immunophenotypic features and particular chromosomal abnormalities, and that a close histogenetic relationship between extranodal, nodal, and splenic MZBCL is likely, although the clinical presentation may vary.

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Partial trisomy for short arm of chromosome 5

Pediatrics International ◽

10.1111/j.1442-200x.1993.tb03065.x ◽

1993 ◽

Vol 35 (4) ◽

pp. 336-339 ◽

Cited By ~ 3

Author(s):

KOJI YASUTOMO ◽

TAKESHI SUZUE ◽

ATSUKO NISHIOKA ◽

HIROKO KOZAN ◽

TAKANORI SEKIGUCHI ◽

...

Keyword(s):

Partial Trisomy ◽

Chromosome 5

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Factors affecting the observed number of young resulting from adjacent-2 disjunction in mice carrying a translocation

Genetics Research ◽

10.1017/s0016672300017134 ◽

1977 ◽

Vol 29 (1) ◽

pp. 83-92 ◽

Cited By ~ 35

Author(s):

Mary F. Lyon ◽

P. H. Glenister

Keyword(s):

Reciprocal Translocation ◽

Proximal Region ◽

Chromosome 9 ◽

Chromosome 17 ◽

Transmission Ratio ◽

Marker Genes ◽

Factors Affecting ◽

Male Gametes

SUMMARYThe frequency of adjacent-2 disjunction in mice carrying the reciprocal translocation T(9; 17)138Ca was studied by mating together animals heterozygous for the translocation and carrying different recessive marker genes, using Tt for chromosome 17 and cwcw for chromosome 9. The proportion of marked young arising from adjacent-2 disjunction varied according to the markers carried in the two parents. When the female carried Tt the frequencies of marked young were always higher than when non-T females were used, and when Tt and cwcw were carried in the same parent there was a shortage of marked young obtaining both copies of the proximal region of chromosome 17 from the father. Both these effects were regarded as probably another example of the phenomenon discovered by Johnson, of inviability of young lacking a maternal homologue of a certain region of chromosome 17. There were other variations in frequency of marked young, among crosses using non-T females, which may have been due to differences in transmission ratio of male gametes carrying various t-haplotypes or to true variations in frequency of adjacent-2 disjunction.

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Partial Trisomy-Deficiency Syndrome Resulting from a Reciprocal Translocation in a Large Kindred

Cytogenetic and Genome Research ◽

10.1159/000129800 ◽

1964 ◽

Vol 3 (2-3) ◽

pp. 81-96 ◽

Cited By ~ 20

Author(s):

Irene A. Uchida ◽

H.C. Wang ◽

O.E. Laxdal ◽

W.A. Zaleski ◽

B.P. Duncan

Keyword(s):

Reciprocal Translocation ◽

Partial Trisomy ◽

Deficiency Syndrome

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Clinical Manifestations of Partial Trisomy 4p

Balkan Journal of Medical Genetics ◽

10.2478/v10034-010-0028-2 ◽

2010 ◽

Vol 13 (2) ◽

pp. 61-63

Author(s):

O Demirhan ◽

F Özgünen ◽

D Taştemir

Keyword(s):

De Novo ◽

Ultrasound Examination ◽

Clinical Manifestations ◽

Partial Trisomy ◽

Defect Analysis ◽

Chromosome 4 ◽

Female Fetus ◽

Dysmorphic Features ◽

Severe Growth ◽

Lung And Kidney

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

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